Progress in understanding the genetic basis of hearing loss is occurring at a rapid pace, with more than 100 genes for deafness already mapped and cloned. These advances in genetic deafness are providing us with information on the basic architecture and functioning of this intricate organ of hearing. It is also leading to the development of molecular diagnostic tests which are used in clinical practice for the evaluation of individuals with hearing loss of unknown etiology. In parallel, advances in technology for audiologic evaluation and the recognition that early identification of hearing loss and initiation of language training can influence the linguistic potential have led to the nationwide implementation of the Early Hearing Detection and Intervention (EHDI) program. However, the pace of communicating these revolutionary advances and their relevance to the consumer have lagged behind. This gap in knowledge of the consumer, and the existence of a Deaf culture, pose unique social and ethical issues for the Deaf and hearing communities. One of the key goals of the ELSI program is to identify, analyze and address the ethical and social implications arising as a result of advances due to the Human Genome Project. Thus we propose to seek and understand the attitudes and concerns of deaf adults and hearing parents of deaf children towards several issues related to genetic testing and technological advances in management of the deaf. We will achieve this by conducting focus group interviews, and using this qualitative information to revise and expand the survey instrument, followed by a nationwide survey of the two groups to seek their knowledge, attitudes and concerns. We will also assess the impact of genetic testing and counseling by measuring its influence on selection of a marriage partner. In order to do this we will test the marriage pattern in 100 deaf probands with Cx26 mutations married before and after the discovery of Cx deafness.
| Burton, Sarah K; Blanton, Susan H; Culpepper, Brandt et al. (2006) Education in the genetics of hearing loss: a survey of early hearing detection and intervention programs. Genet Med 8:510-7 |
| Norris, Virginia W; Arnos, Kathleen S; Hanks, Wendy D et al. (2006) Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness. Ear Hear 27:732-41 |
| Burton, Sarah K; Withrow, Kara; Arnos, Kathleen S et al. (2006) A focus group study of consumer attitudes toward genetic testing and newborn screening for deafness. Genet Med 8:779-83 |
